Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4794822
rs4794822 		3 17 40000459 downstream gene variant C/G;T snv 0.800 1.000 4 2011 2019
dbSNP: rs113760175
rs113760175
CASC15
3 6 22343363 intron variant G/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs1144700
rs1144700
ATXN1
5 6 16744456 intron variant C/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs11574938
rs11574938
ITGAL
6 0.827 0.120 16 30474072 missense variant G/A;C snv 0.62 0.700 1.000 2 2016 2019
dbSNP: rs11642657
rs11642657 		3 16 85982722 intron variant C/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs12600856
rs12600856 		5 17 40007042 intergenic variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs1700159
rs1700159
ACVRL1
4 1.000 0.040 12 51912002 intron variant C/A;G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs1822534
rs1822534 		2 3 12225304 intergenic variant A/G;T snv 0.700 1.000 2 2016 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 2 2016 2019
dbSNP: rs76428106
rs76428106
FLT3
10 0.851 0.040 13 28029870 intron variant T/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs7705526
rs7705526
TERT
15 0.776 0.240 5 1285859 intron variant C/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs8179
rs8179
CDK6
8 0.882 0.080 7 92606850 3 prime UTR variant T/A;C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs8705
rs8705
ETS1
5 11 128459018 3 prime UTR variant G/A;T snv 0.700 1.000 2 2016 2019
dbSNP: rs10016631
rs10016631
POLR2B
1 4 57019797 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1006310
rs1006310
ATF6
1 1 161841765 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs10087240
rs10087240
PVT1
2 8 128000328 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10098310
rs10098310
CCDC26
3 8 129601368 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10129035
rs10129035 		1 12 83706429 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10158210
rs10158210 		1 1 158342195 intergenic variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs10178094
rs10178094
RBMS1
1 2 160479895 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10206089
rs10206089 		4 2 61476184 intron variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1023667
rs1023667 		1 5 158541893 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs10305751
rs10305751
ARNT
1 1 150810982 3 prime UTR variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1045303
rs1045303
DENND3
1 8 141190368 synonymous variant G/A;C snv 0.34; 1.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs1045916
rs1045916
BRI3 ; BAIAP2L1
1 7 98304289 missense variant C/A;T snv 4.0E-06; 0.68 0.700 1.000 1 2019 2019